A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939355



Internal ID9702130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101034767..101036422hg38UCSC Ensembl
Outerchr7:100678048..100679703hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381656
hg191656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734914, esv2734918, esv2734888, esv2734913
Supporting Variants
SamplesSSM022
Known GenesMUC17
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6939355
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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